SGCZ Summary

The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

SGCZ Details

Gene Symbol : SGCZ

Gene Name : Sarcoglycan zeta

Chromosome : CHR 8: 152,382,82-140,848,34

Locus : 8p22

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VPS13B Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

VPS13B Details

Gene Symbol : VPS13B

Gene Name : Vacuolar protein sorting 13 homolog B

Chromosome : CHR 8: 990,070,13-998,775,85

Locus : 8q22.2

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